高分辨率熔体
肺癌
癌症研究
癌症
突变
分辨率(逻辑)
高分辨率
医学
生物
病理
聚合酶链反应
内科学
基因
遗传学
计算机科学
地质学
人工智能
遥感
作者
Carlos Martínez-Carretero,Fernando Iguaz Pascual,Antonio Rus,Iván Bernardo
标识
DOI:10.1515/cclm-2016-0353
摘要
Abstract Background: The discovery of mutations in the epidermal growth factor receptor gene ( Methods: We developed a screening method by high resolution melting (HRM) to detect Results: Eight samples showed discordant results between both methods. Three samples with negative results by allele specific PCR and positive by HRM were confirmed by Sanger sequencing (p.S768I+p.V769L, T751_I759del and p.E709K+p.G719A; patients 1, 3 and 4, respectively). One sample with a negative result by HRM, and positive by allele specific PCR (p.T790M; patient 2), was confirmed by Sanger sequencing. Additionally, two positive samples for a deletion in exon 19 by allele-specific PCR, were negative by Sanger sequencing and HRM (patients 2 and 5) and finally, two samples were negative by allele-specific PCR and positive by HRM and Sanger sequencing due to synonymous variants in exon 21. Conclusions: HRM is a good method for mutational screening in
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